TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [1]

American Journal of Medical Genetics

Volumn 130 A, Issue 3, 2004, Pages 320-321

  Bartmann, Ana Karina ^a   Ramos, Ester Silveira ^a   Caetano, Lisandra C ^a   Rios, Álvaro F L ^a   Vila, Reginaldo A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PRIMER DNA;

BLOOD; CHEEK; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA EXTRACTION; FEMALE; GENE SEQUENCE; HUMAN; HUMAN CELL; KARYOTYPE 45,X; KARYOTYPE 46,XY; LETTER; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; TURNER SYNDROME; URINE; Y CHROMOSOME;

CELL CYCLE PROTEINS; CYTOGENETIC ANALYSIS; DNA; DNA-BINDING PROTEINS; FEMALE; HUMANS; KARYOTYPING; MALE; MOUTH MUCOSA; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; TURNER SYNDROME;

EID: 4744362277     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20657     Document Type: Letter

References (13)

1. Alvarez-Nava F, Soto M, Sanchez MA, Fernandez E, Lanes R. 2003. Molecular analysis in Turner syndrome. J Pediatr 142:336-340.
2. Buffone GJ, Demmler GJ, Schimbor CM, Greer J. 1991. Improved amplification of cytomegalovirus DNA from urine after purification of DNA with glass beads. Clin Chem 37:1945-1949.
3. Chu C, Connor JM. 1995. Molecular biology of Turner's Syndrome. Arch Dis Child 72:285-286.
4. De Cremoux P, Thioux M, Peter M, Vielh P, Michon J, Delattre O, Magdelenat H. 1997. Polymerase chain reaction compared with dot blotting for determination of N-myc gene amplification in neuroblastoma. Int J Cancer 72:512-518.
5. Gasparini P, Savoia A, Pignatti PF, Dallapiggola B, Novelli G. 1989. Amplification of DNA from epithelial cells in urine. N Engl J Med 320:809.
6. Guerreiro JF, Figueiredo MS, Santos SE, Zago MA. 1992. β-Globin gene cluster haplotypes in Yanomama Indians from Amazon Region of Brazil. Hum Genet 89:629-631.
7. Hall J. 2002. Detection of Y-specific sequences in patients with Turner Syndrome. Am J Med Genet 113:114.
8. Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, Friedrich U. 1995. Parental origin of the X chromosome, X mosaicism and screening for "hidden" Y chromosome in 45, X Turner syndrome ascertained cytogenetically. Clin Genet 48:6-11.
9. Miller AS, Dykes DD, Polesky KF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16:1215.
10. Nishi MY, Domenice S, Medeiros MA, Mendonça BB, Billerbeck AEC. 2002. Detection of Y-sequences in 122 patientes with Turner Syndrome: Nested PCR is not a reliable method. Am J Med Genet 107:299-305.
11. Ratti A, Stuppia L, Gatta V, Fogh I, Calabrese G, Pizzuti A, Palka G. 2000. Characterization of a new TSPY gene family member in Yq (TSPYq1). Cytogenet Cell Genet 88:159-162.
12. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O. 1995. Diverse spermatic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393.
13. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240-244.